ClinVar Miner

Submissions for variant NC_000023.10:g.(?_30322696)_(30327480_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004583139 SCV005065488 pathogenic Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2023-09-27 criteria provided, single submitter clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the NR0B1 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. A similar copy number variant has been observed in individuals with NR0B1-related conditions (PMID: 17504899, 20685758, 21408189, 26980296). For these reasons, this variant has been classified as Pathogenic.

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